Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.

ABSTRACT: To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved at two tertiary university hospitals for clinical exome sequencing with subsequent filtering of 122 cardio-specific genes to elucidate underlying cardio-pathogenic variants. In total, we included 12 (75%) male and four (25%) female fetuses who were stillborn at a median gestational age of 34⁺⁶ (23⁺²-40⁺⁵) weeks. In two (12.5%) fetuses no cardio-pathogenic variants were found. In 14 (87.5%) fetuses, overall 33 variants were detected in 22 cardio-specific genes, involving 14 (63.63%) genes associated with cardiomyopathy,

SUBMITTER: Muin DA 

PROVIDER: S-EPMC7991630 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature